×
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710
GeneticVariation
CLINVAR
Prevalence and Spectrum of Germline Cancer Susceptibility Gene Mutations Among Patients With Early-Onset Colorectal Cancer.
27978560 2017
×
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710
GeneticVariation
CLINVAR
Cancer Susceptibility Gene Mutations in Individuals With Colorectal Cancer.
28135145 2017
×
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710
Biomarker
CLINGEN
Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer.
27329137 2016
×
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710
CausalMutation
CLINVAR
Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population.
27601186 2016
×
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710
GeneticVariation
CLINVAR
Understanding the Pathogenicity of Noncoding Mismatch Repair Gene Promoter Variants in Lynch Syndrome.
26888055 2016
×
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710
GeneticVariation
CLINVAR
Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome.
27435373 2016
×
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710
CausalMutation
CLINVAR
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.
26681312 2016
×
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710
GeneticVariation
CLINVAR
Mutation spectrum and risk of colorectal cancer in African American families with Lynch syndrome.
26248088 2015
×
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710
CausalMutation
CLINVAR
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
25525159 2015
×
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710
CausalMutation
CLINVAR
Mutation spectrum and risk of colorectal cancer in African American families with Lynch syndrome.
26248088 2015
×
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710
GeneticVariation
CLINVAR
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
25525159 2015
×
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710
CausalMutation
CLINVAR
Candidate colorectal cancer predisposing gene variants in Chinese early-onset and familial cases.
25892863 2015
×
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710
CausalMutation
CLINVAR
Genetic features of Lynch syndrome in the Israeli population.
25430799 2015
×
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710
CausalMutation
CLINVAR
Germline MLH1 Mutations Are Frequently Identified in Lynch Syndrome Patients With Colorectal and Endometrial Carcinoma Demonstrating Isolated Loss of PMS2 Immunohistochemical Expression.
25871621 2015
×
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710
CausalMutation
CLINVAR
Risk Factors Associated with Colorectal Cancer in a Subset of Patients with Mutations in MLH1 and MSH2 in Taiwan Fulfilling the Amsterdam II Criteria for Lynch Syndrome.
26053027 2015
×
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710
CausalMutation
CLINVAR
Genetic and clinical determinants of constitutional mismatch repair deficiency syndrome: report from the constitutional mismatch repair deficiency consortium.
24440087 2014
×
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710
CausalMutation
CLINVAR
A founder MLH1 mutation in Lynch syndrome families from Piedmont, Italy, is associated with an increased risk of pancreatic tumours and diverse immunohistochemical patterns.
24802709 2014
×
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710
CausalMutation
CLINVAR
Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.
24362816 2014
×
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710
CausalMutation
CLINVAR
Tumor mismatch repair immunohistochemistry and DNA MLH1 methylation testing of patients with endometrial cancer diagnosed at age younger than 60 years optimizes triage for population-level germline mismatch repair gene mutation testing.
24323032 2014
×
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710
GeneticVariation
CLINVAR
Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.
24362816 2014
×
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710
GeneticVariation
CLINVAR
The MLH1 c.-27C>A and c.85G>T variants are linked to dominantly inherited MLH1 epimutation and are borne on a European ancestral haplotype.
24084575 2014
×
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710
Biomarker
CTD_human
Functional implications of the p.Cys680Arg mutation in the MLH1 mismatch repair protein.
25077178 2014
×
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710
CausalMutation
CLINVAR
Missense mutations of MLH1 and MSH2 genes detected in patients with gastrointestinal cancer are associated with exonic splicing enhancers and silencers.
23760103 2013
×
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710
GeneticVariation
CLINVAR
Identification of constitutional MLH1 epimutations and promoter variants in colorectal cancer patients from the Colon Cancer Family Registry.
22878509 2013
×
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
Hereditary Non-Polyposis Colon Cancer Type 2
0.710
GeneticVariation
CLINVAR
Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions.
22949387 2013